Discovering New Genetic Markers in Adults and Children Who May Be At Risk for Hereditary Forms of Cancer

March 11, 2024 updated by: Memorial Sloan Kettering Cancer Center

Discovery and Characterization of Susceptibility Genes in Adults and Children With Suspected Hereditary Cancer Predisposition

This study is being done to attempt to identify genetic mutations or other gene-based variations in adults and children who have cancer, or are likely to develop an inherited form of cancer, and potentially reduce their risk for cancer or treat the cancer earlier.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

1500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Kenneth Offit, MD, MPH
  • Phone Number: 646-888-4059
  • Email: offitk@mskcc.org

Study Contact Backup

Study Locations

  • United States
    • New Jersey
      • Basking Ridge, New Jersey, United States, 07920
        • Recruiting
        • Memorial Sloan Kettering Basking Ridge (Consent only)
        • Contact:
          • Kenneth Offit, MD, MPH
          • Phone Number: 646-888-4059
      • Middletown, New Jersey, United States, 07748
        • Recruiting
        • Memorial Sloan Kettering Monmouth (Consent only)
        • Contact:
          • Kenneth Offit, MD, MPH
          • Phone Number: 646-888-4059
      • Montvale, New Jersey, United States, 07645
        • Recruiting
        • Memorial Sloan Kettering Bergen (Consent Only )
        • Contact:
          • Kenneth Offit, MD, MPH
          • Phone Number: 646-888-4059
    • New York
      • Commack, New York, United States, 11725
        • Recruiting
        • Memorial Sloan Kettering Cancer Center @ Commack (Consent Only)
        • Contact:
          • Kenneth Offit, MD, MPH
          • Phone Number: 646-888-4059
      • Harrison, New York, United States, 10604
        • Recruiting
        • Memorial Sloan Kettering Westchester (Consent only)
        • Contact:
          • Kenneth Offit, MD, MPH
          • Phone Number: 646-888-4059
      • New York, New York, United States, 10065
        • Recruiting
        • Memorial Sloan Kettering Cancer Center
        • Contact:
          • Kenneth Offit, MD, MPH
          • Phone Number: 646-888-4059
      • Uniondale, New York, United States, 11553
        • Recruiting
        • Memorial Sloan Kettering Nassau (Consent only)
        • Contact:
          • Kenneth Offit, MD, MPH
          • Phone Number: 646-888-4059

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Potential participants will be identified by members of the Clinical Genetics Service from the following sources: a) MSK patients previously tested through MSK IMPACT #12-245 protocol; b) MSK patients referred to the Clinical Genetics Service by an MSK physician, outside physician, or self-referral; c) non-MSKCC patients referred or self-referred to the Clinical Genetics Service or directly to the P.I. and identified as candidates for participation in this study; d) family members of probands identified by the study team to be informative for research purposed.

Description

Inclusion Criteria:

  • Individuals who have undergone clinical and/or research genetic evaluation, found to have or not have a germline genetic variant (pathogenic, likely pathogenic, variant of uncertain/unknown significance, likely benign).
  • Individuals with or without a personal history of malignant or pre-malignant lesions who demonstrate: a) clinical findings suggestive of a genetic cancer susceptibility syndrome including very early age at onset, multiple primary malignancies, or other features; and/or b) family histories suggestive of a genetic cancer susceptibility syndrome, or c) other features suggesting inherited etiology of malignancy as determined by the PI.
  • Family members of the above participants. Both children (with parental consent as age appropriate) and adults are eligible to participation.
  • Individuals may or may not be enrolled MSK patients; probands may be referred to (or self-referred to) the study and may be enrolled at discretion of the PI and if able to provide informed consent.
  • Biospecimens derived from deceased family members may be used for research in this study if consent if provided by the executor of the estate of that individual.

Exclusion Criteria:

  • Patients will be excluded from this study if he/she has physical, cognitive or psychiatric conditions that interfere with ability to give meaningful informed consent.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Proband
First individual in a family to consent to this protocol
Other: Family History Information
The family history ascertainment focuses on self-reported family history of first-, second-, and third-degree family members, including types of malignancies/ pre-malignant lesions and age at diagnosis.
Genetic: ORAGENE
Approximately 2-4mL of saliva may be collected in specialized Oragene DNA Self-Collection Kit tubes or buccal swab-based collection devices.
Other Names:
  • Saliva
Genetic: Blood
For select participants, 1-2 tubes of blood will be drawn for DNA and RNA analysis
Other: Skin Biopsy
In certain circumstances, for Memorial Sloan Kettering participants and their family members, it may be necessary to obtain a skin biopsy.
Family Member Participants
Family members of the proband will be approached to consent to this protocol
Other: Family History Information
The family history ascertainment focuses on self-reported family history of first-, second-, and third-degree family members, including types of malignancies/ pre-malignant lesions and age at diagnosis.
Genetic: ORAGENE
Approximately 2-4mL of saliva may be collected in specialized Oragene DNA Self-Collection Kit tubes or buccal swab-based collection devices.
Other Names:
  • Saliva
Genetic: Blood
For select participants, 1-2 tubes of blood will be drawn for DNA and RNA analysis
Other: Skin Biopsy
In certain circumstances, for Memorial Sloan Kettering participants and their family members, it may be necessary to obtain a skin biopsy.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Discovery of novel cancer susceptibility genes
Time Frame: Up to 10 years
Up to 10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Memorial Sloan Kettering Cancer Center

Investigators

  • Principal Investigator: Kenneth Offit, MD, MPH, Memorial Sloan Kettering Cancer Center

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 17, 2019

Primary Completion (Estimated)

April 1, 2029

Study Completion (Estimated)

April 1, 2029

Study Registration Dates

First Submitted

April 18, 2019

First Submitted That Met QC Criteria

April 18, 2019

First Posted (Actual)

April 22, 2019

Study Record Updates

Last Update Posted (Actual)

March 12, 2024

Last Update Submitted That Met QC Criteria

March 11, 2024

Last Verified

March 1, 2024

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • 19-133

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

• Memorial Sloan Kettering Cancer Center supports the international committee of medical journal editors (ICMJE) and the ethical obligation of responsible sharing of data from clinical trials. The protocol summary, a statistical summary, and informed consent form will be made available on clinicaltrials.gov when required as a condition of Federal awards, other agreements supporting the research and/or as otherwise required. Requests for deidentified individual participant data can be made beginning 12 months after publication and for up to 36 months post publication. Deidentified individual participant data reported in the manuscript will be shared under the terms of a Data Use Agreement and may only be used for approved proposals. Requests may be made to: crdatashare@mskcc.org.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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